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familiaire infantiele myoklonische epilepsie (aandoening)
familiaire infantiele myoklonische epilepsie
familiaire infantiele myoclonusepilepsie
Familial infantile myoclonic epilepsy
Familial infantile myoclonus epilepsy
FIME - familial infantile myoclonic epilepsy
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.
Id784342008
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map352582
SNOMED CT to ICD-10 extended map
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified